Rare Diseases Clinical Research Network

Recent Study from England’s National Health Service Highlights Positive Impact of Implementing HeartFlow’s FFRCT Analysis for Diagnosis of Coronary Artery Disease

Retrieved on: 
Saturday, August 26, 2023
Science, Cardiology, Biotechnology, Research, Pharmaceutical, General Health, Health, Clinical Trials, Liverpool Heart and Chest Hospital, Percutaneous coronary intervention, Rare Diseases Clinical Research Network, National Health Service, FISH, NHS England, Non-fatal offences against the person in English law, CV, MI, Fractional flow reserve, Principal investigator, Cardiovascular disease, CAD, CRN, CCTA, MRC, European Society of Cardiology, PCI, Congress, Patient, Physician, Risk, CHIPS, Diagnosis, Mortality, ICA, NHS, Coronary artery disease, ESC, Medical device, Medical imaging, Pharmaceutical industry

The FISH&CHIPS study was designed to assess at a national level the incremental impact of adding HeartFlow FFRCT to a CCTA-first (Coronary Computed Tomography Angiography) diagnostic pathway to evaluate and manage CAD.

Key Points: 
  • The FISH&CHIPS study was designed to assess at a national level the incremental impact of adding HeartFlow FFRCT to a CCTA-first (Coronary Computed Tomography Angiography) diagnostic pathway to evaluate and manage CAD.
  • FISH&CHIPS two-year key outcomes associated with availability of FFRCT include:
    A significant 14% relative reduction in cardiovascular mortality and a significant 8% relative reduction in all-cause mortality.
  • An increase in cath lab efficiency, driven by a 5% relative reduction in invasive cardiac angiography (ICA) and an 8% relative increase in Percutaneous Coronary Intervention (PCI).
  • High prognostic value for FFRCT whereby patients with severely abnormal FFRCT values (≤0.50) had a 2x risk of all-cause death and a 3x risk of non-fatal MI compared to patients with normal FFRCT values.

Landmark Study on Treating Hypertension During Pregnancy Wins National Clinical Research Excellence Award

Retrieved on: 
Thursday, May 4, 2023
University of Alabama at Birmingham, Tufts University, Columbia University, Faculty, The New England Journal of Medicine, Anannya Top Ten Awards, Vice, College of Physicians & Surgeons of Mumbai, University, College, CHAP, Stroke, Rare Diseases Clinical Research Network, Dean, Woman, Research, Disease, Science, Creativity, Trustee, Place of birth, Clinical research, Surgeon, Mortal Kombat, Hospital, Hypertension, Health, Death, Clinical, Treatment, Pharmaceutical industry, Pregnancy, Physician, MD, Medicine

Washington, D.C., May 4, 2023 /PRNewswire-PRWeb/ -- The Clinical Research (CR) Forum, a non-profit membership association of top clinical research experts and thought leaders from the nation's leading academic health centers, awarded its most prestigious honor, The Herbert Pardes Clinical Research Excellence Award, to Dr. Alan Tita of the University of Alabama Birmingham. Dr. Tita's study demonstrated that treating non-severe high blood pressure with approprirate medications during pregnancy was beneficial and safe for women and their babies. These results have had an immediate impact on treatment in the United States.

Key Points: 
  • Dr. Alan Tita, University of Alabama-Birmingham, received the Herbert Pardes Clinical Excellence Award from the Clinical Research Forum.
  • Dr. Tita's study demonstrated that treating non-severe high blood pressure with approprirate medications during pregnancy was beneficial and safe for women and their babies.
  • This study was recognized during the CR Forum's annual Top Ten Clinical Research Achievement Awards, held in Washington, D.C.
  • Since 1996, the Clinical Research Forum has enabled the sharing of best practices in clinical research, informed meaningful policy dialogues and increasingly played a national advocacy role in support of clinical research.

Myosana Therapeutics Raises $5 Million in Seed Funding

Retrieved on: 
Wednesday, January 25, 2023
Research, Genetics, Cardiology, Biotechnology, Other Health, Health, Pharmaceutical, Other Science, Science, Medical director, PPMD, Muscular Dystrophy Association, Rare Diseases Clinical Research Network, ARCH Venture Partners, Pfizer, Drug development, Patient, CSO, Muscular dystrophy, Therapy, Duchenne, Rare, Duchenne muscular dystrophy, Lumley, Pharmaceutical industry, Moderna

Myosana Therapeutics, Inc. , pioneer of a muscle-specific non-viral gene therapy platform for neuromuscular and cardiac diseases, today announced the completion of a seed funding round totaling over $5 million led by investor John Ballantyne, Ph.D.

Key Points: 
  • Myosana Therapeutics, Inc. , pioneer of a muscle-specific non-viral gene therapy platform for neuromuscular and cardiac diseases, today announced the completion of a seed funding round totaling over $5 million led by investor John Ballantyne, Ph.D.
  • The capital will go toward developing Myosana’s platform with the goal of identifying the first development candidate for Duchenne muscular dystrophy by 2025.
  • Completion of this major funding round comes just as Myosana has appointed its new CEO, Dr. Matthew Lumley.
  • In his role on Myosana’s Board of Directors, Lumley has been intimately involved in raising seed funding and advancing the platform.

Rare Disease Genetic Testing Market Report 2022: Advancements Such as NGS and Microarray Testing Drive Sector - ResearchAndMarkets.com

Retrieved on: 
Tuesday, December 6, 2022
Genetics, Health, Medical Devices, NIH, Degenerative disease, Cushing's syndrome, Disorder, NGS, Revenue, Projection, Disease, Diagnosis, Patient, Prevalence, Rare Diseases Clinical Research Network, Research, Data collection, Cros, Government, Growth, Genetic testing, RDCRN, USD, Registry, Agriculture, Pharmaceutical industry, Antibiotics, Vaccine

The "Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Specialty; By Technology; By Disease Type; By End-Use; By Region; Segment Forecast, 2022-2030" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Specialty; By Technology; By Disease Type; By End-Use; By Region; Segment Forecast, 2022-2030" report has been added to ResearchAndMarkets.com's offering.
  • The global rare disease genetic testing market size is expected to reach USD 2,414.90 million by 2030 according to a new study.
  • The report gives a detailed insight into current market dynamics and provides analysis on future market growth.
  • The publisher has segmented the rare disease genetic testing market report based on disease type, technology, specialty, end-use, and regions:
    Rare Disease Genetic Testing, Disease Type Outlook (Revenue - USD Million, 2018 - 2030)

Largest study measuring extent of COVID-19 in Canadian children and teens now underway

Retrieved on: 
Thursday, October 6, 2022
Rare Diseases Clinical Research Network, Disease, Hospital, Canadian Blood Services, Infection, World Blood Donor Day, Government of Canada, Canadian Institutes of Health Research, Immunity, Severe acute respiratory syndrome coronavirus 2, CIHR, COVID-19, Serology, Antibody, Patient, Secretariat, Research, Executive Committee, POPCORN, Task force, Â, COVID-19 Immunity Task Force, Goal, Serostatus, Public, DRS, Health, Service, RBD, CHU, Nature, Ageing, GLOBE, CITF, Vaccination, Government, Antigen, Capsid, Public health, Vaccine, Pharmaceutical industry

Whats more, since levels of transmission, vaccination and immunity are continually changing, ongoing surveillance is necessary to help guide public health policy.

Key Points: 
  • Whats more, since levels of transmission, vaccination and immunity are continually changing, ongoing surveillance is necessary to help guide public health policy.
  • Soren Gantt and Caroline Quach-Thanh, investigators at CHU Sainte-Justine Research Centre and professors at the Universit de Montral.
  • Five times during the coming year, approximately 7,200 samples will be obtained and tested through the new study.
  • At the Canadian Institutes of Health Research (CIHR), we know that research has the power to change lives.

Global Rare Disease Genetic Testing Market Report 2022: Ongoing Conferences to Raise Awareness About Rare and Ultra-Rare Conditions to Boost Growth - ResearchAndMarkets.com

Retrieved on: 
Monday, September 19, 2022
Research, Mental Health, Neurology, Genetics, Clinical Trials, Biotechnology, Health, Science, Oncology, Other Science, Health policy, Rare Disease Day, Neurology, Canadian Organization for Rare Disorders, National, Genetic testing, Adoption, Degenerative disease, Incidence, CORD, CVD, RDCRN, Sclerosis, Registry, Organization, Learning, Growth, Industry, Rare Diseases Clinical Research Network, Lists of diseases, USD, Patient, Investment, Cancer, Disorder, CLIA, Diagnosis, NGS, Research, Awareness, PCR, NIH, Disease, Disease management, CAGR, Vaccine, Pharmaceutical industry, Technology

The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report.

Key Points: 
  • The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report.
  • Effective regulatory plans to combat rare disease is one of the key drivers of the industry.
  • Ongoing conferences to raise awareness about rare and ultra-rare conditions are anticipated to boost the adoption of diagnostic kits and services.
  • Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry's growth.

University Cancer & Blood Center adds radiation oncologist to physician roster

Retrieved on: 
Thursday, August 11, 2022
UCBC, Surgeon, American Board of Commissioners for Foreign Missions, Technology, University of Kentucky College of Medicine, Sun Yat-sen University Cancer Center, Radiation therapy, Society, Hope, American Society for Radiation Oncology, Health, Cancer, Patient, Wake Forest School of Medicine, Family, American Board of Radiology, American Society of Clinical Oncology, Rare Diseases Clinical Research Network, Physician, University, Disease, Medicine, Medical imaging, Medical device

ATHENS, Ga., Aug. 11, 2022 /PRNewswire-PRWeb/ -- University Cancer & Blood Center (UCBC), a leading oncology and hematology practice for Northeast Georgia, welcomes Dr. Cole Steber, a board-certified clinical and radiation oncologist. This continues UCBC's tradition of enlisting best-in-class physicians to deliver the highest possible patient care.

Key Points: 
  • ATHENS, Ga., Aug. 11, 2022 /PRNewswire-PRWeb/ -- University Cancer & Blood Center (UCBC), a leading oncology and hematology practice for Northeast Georgia, welcomes Dr. Cole Steber, a board-certified clinical and radiation oncologist.
  • He joins UCBC's expert team, specializing in the radiation therapy treatment of patients who have a wide variety of cancers.
  • Radiation therapy uses carefully targeted and regulated doses of high-energy radiation to kill cancer cells.
  • University Cancer & Blood Center has been Northeast Georgia's leading cancer and hematology treatment center for over 40 years.

Alltrna Appoints Rare Disease Clinical Research Expert, Dr. Anne Pariser, as Vice President, Medical and Regulatory Affairs

Retrieved on: 
Monday, February 28, 2022
Rubius, Therapy, SANA, Office of Rare Diseases Research, Health, National Center for Advancing Translational Sciences, Program, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Growth, Degenerative disease, RNA, Informatics, NIH, Investment, RDCRN, Georgetown University School of Medicine, Language, National Institutes of Health, NCATS, David Berry (inventor), Biology, Center for Drug Evaluation and Research, Drug development, Flagship Pioneering, MRNA, Center, Disease, RNA transfection, Review, Food, Rare Diseases Clinical Research Network, Multimedia, Motivation, National, CDER, FDA, Nasdaq, MBA, Ecosystem, Flagship, Internal medicine, Doctor of Philosophy, Georgetown University Medical Center, Policy, Pharmaceutical industry, Medical device, Research

Prior to joining Alltrna, Dr. Pariser was the Director of the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), whose mission is to advance rare diseases research through a variety of research programs.

Key Points: 
  • Prior to joining Alltrna, Dr. Pariser was the Director of the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), whose mission is to advance rare diseases research through a variety of research programs.
  • "We are thrilled she has joined our team to lead Alltrna's strategy for regulatory and medical research as we leverage tRNA biology as a platform approach to treat many diseases with a single medicine."
  • "As a therapeutic mechanism, tRNA has this unique potential to treat thousands of different diseases with a precision medicine approach.
  • During her tenure at ORDR, Dr. Pariser oversaw the Rare Diseases Clinical Research Network (RDCRN), a network of rare diseases research consortia focusing on research programs into more than 200 different rare diseases and other research programs.

SynGAP Research Fund Announces $308,000 Multidisciplinary Biomarker Grant to Boston Children's Hospital

Retrieved on: 
Wednesday, October 13, 2021
EEG, Epilepsy, Hospital, Autism, Data, Degenerative disease, Boston Children's Hospital, Impulsivity, Aggression, Hypotonia, BCH, Natural history, SYNGAP1, Industry, Intellectual disability, Rare Diseases Clinical Research Network, IPSC, SRF, Quality of life, DSC, Apraxia, Partnership, Congress, Patient, Disease, Research, Biomarker, Uschi Keszler's Pennies-in-Action Cancer Research Fund, Genetic disorder, Pharmaceutical industry, Medical device

NEW YORK, Oct. 13, 2021 /PRNewswire/ -- The SynGAP Research Fund (SRF) announces grants to Drs. April Levin, Mustafa Sahin and Annapurna Poduri of Boston Children's Hospital (BCH) to advance SYNGAP1 biomarker characterization and genotype-phenotype analysis.

Key Points: 
  • NEW YORK, Oct. 13, 2021 /PRNewswire/ -- The SynGAP Research Fund (SRF) announces grants to Drs.
  • April Levin , Mustafa Sahin and Annapurna Poduri of Boston Children's Hospital (BCH) to advance SYNGAP1 biomarker characterization and genotype-phenotype analysis.
  • Dr. Levin says, "We are thrilled to be working with the SynGAP Research Fund on a vitally important effort to identify biomarkers for SYNGAP1-related disorders.
  • Dr. Poduri says, "We are delighted to have the unique opportunity to analyze data collected by the SynGAP Research Fund and Ciitizen.

Adamis Highlights National Institute of Health Study Identifying Tempol as a Potential Antiviral Drug for COVID-19

Retrieved on: 
Monday, June 7, 2021
National Institutes of Health, Nursing research, Health care, National Institute of Allergy and Infectious Diseases, Health, United States national laboratories, National Institute of Neurological Disorders and Stroke, Galveston National Laboratory, Medicine, Rare Diseases Clinical Research Network

The team also included researchers from the National Cancer Institute, the National Institute of Allergy and Infectious Diseases and the National Institute of Neurological Disorders and Stroke.

Key Points: 
  • The team also included researchers from the National Cancer Institute, the National Institute of Allergy and Infectious Diseases and the National Institute of Neurological Disorders and Stroke.
  • Researchers intend to conduct additional studies and will evaluate Tempol in a clinical study for COVID-19.
  • The NIH results, along with other data, suggest Tempol is well-suited for further study for use in the early treatment of COVID-19.
  • The NIH study follows studies conducted in collaboration with Galveston National Laboratory and the University of Texas Medical Branch at Galveston.